After childbirth, the usual and much awaited announcement from a midwife in the labor ward is - 'it's a boy' or 'it's a girl'. But there are instances when the midwife cannot determine the sex of the baby as the sex organs do not conform to defined norms of a male or a female. The baby is born with sex organs that aren't clearly male or female. There is ambiguity about the gender. The child is born with a disorder of sex development (DSD). In all probability the midwife may relate to the newborn as 'baby'. Here is a child diagnosed with DSD at birth.
An estimated 2,000 babies are born 'intersex' each year, referring to a set of over 60 different conditions that fall under the diagnosis of 'DSD' (Differences/Disorders of Sex Development). DSD occurs more often than Down syndrome or cystic fibrosis. In the last 15 years, there is more openness about DSD which has led to moving beyond the medical/biological realm. There is growing interest in gender studies as well.
From Intersex syndrome to DSD
Other terms in place of disorder of sex development are 'intersex' (between the sexes) or 'hermaphrodite' or 'pseudohermaphroditism'. International experts held a conference (International Consensus Conference on Intersex) in 2006 and have reached a consensus that the term DSD or disorder of sex development should replace all those terms.
Some people prefer to use terms like 'differences in sex development' or 'diversity of sex development'. There are three basic types of DSDs. These manifest in different ways. Understanding X and Y chromosomes can help in sorting out the types of DSDs.
Females have two X chromosomes (XX) in each cell. This is by inheriting one X chromosome from each parent. Two X chromosomes is medically written as Karyotype 46, XX. And males have an X chromosome and a Y chromosome (XY). This is by inheriting an X chromosome from the mother and a Y chromosome from the father. An XY is referred to as Karyotype 46, XY.
The Y chromosome helps make a boy as it contains the genes for the development of male organs like the testes and penis. This happens around the 6th week of fetal development. As the testes make testosterone, the penis, scrotum and urethra form. Between 7th and 8th month of the pregnancy, the testes descend into the scrotum. In the absence of the Y chromosome, the fetal tissue in a female fetus (XX) will form the female sex organs – the ovaries, uterus and the fallopian tubes.
Causes of disorder of Sex development
Through the many stages of sex development, if all is typical the fetus develops into a normal male or a female. But, if at any stage of sex development an atypical development takes place it results in a 'disorder of sex development. Like:
Types of DSDs
Diagnostic approach to DSD
Diagnosis begins with determining the type of disorder of sex development. Physical examination, medical history of the mother's health during pregnancy and family history of any neo-natal deaths form part of the diagnosis. A biopsy of the reproductive organs is done where necessary.
Treatment of DSD
Treatment options are based on specific diagnosis and issues involved. Not restricted to medical treatment, it involves psychological support as well. Reconstructing external genitalia or removing internal genitalia are surgical procedures. In some cases, more than one surgery is needed.
Surgical procedures for DSD
Not every DSD requires surgery. Medications may also be used to treat certain DSDs. Experts recommend waiting till adolescence to understand the individual's preference for identity. In children, surgery is necessary:
Feminizing surgery: Going by 'Chicago Consensus', Feminizing surgery should only be considered in cases of severe virilisation. Also, the emphasis should be on functional outcome rather than cosmetic appearance. An ongoing debate on Feminizing Surgery is the timing of the surgery. A section believes in performing early feminizing surgery. Yet another section advocate feminizing surgery in adolescence as the patient is involved in discussions and decision-making.
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Diseases, Symptoms, Tests and Treatment arranged in alphabetical order:
Bibliography / Reference
Collection of Pages - Last revised Date: May 26, 2020